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Gene|May 29, 2012
335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic featuresViola Alesi, Marta Bertoli, Giuseppe Barrano, et al.
Journal of Autism and Developmental Disorders|October 14, 2017
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum DisordersEleonora Napoli, Serena Russo, Laura Casula, et al.
American Journal of Medical Genetics. Part A|December 20, 2018
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variantSilvia Morlino, Viola Alesi, Federica Calì, et al.
American Journal of Medical Genetics. Part A|October 6, 2018
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndromeViola Alesi, Rossella Capolino, Silvia Genovesea, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosisViola Alesi, Giuseppe Barrano, Sara Morara, et al.
Annals of Human Genetics|October 11, 2018
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndromeViola Alesi, Maria Lisa Dentici, Sara Loddo, et al.
Frontiers in Genetics|February 21, 2024
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature reviewChiara Minotti, Ludovico Graziani, Ester Sallicandro, et al.
European Journal of Human Genetics : EJHG|July 25, 2022
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|October 20, 2025
Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication SyndromeIlaria Venezia, Sara Passarini, Silvia Guerrera, et al.
Molecular Cytogenetics|June 22, 2019
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benignFabrizia Restaldi, Viola Alesi, Angela Aquilani, et al.
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